Study: JGAS00000000123

Identifier

AccessionJGAS00000000123

Description

TitleWFS1 mutation screening in a large series of Japanese hearing loss patients: Massively parallel DNA sequencing-based analysis
AbstractA heterozygous mutation in the Wolfram syndrome type 1 gene (WFS1) causes autosomal dominant nonsyndromic hereditary hearing loss, DFNA6/14/38, or Wolfram-like syndrome. To date, more than 40 different mutations have been reported to be responsible for DFNA6/14/38. In the present study, WFS1 variants were screened in a large series of Japanese hearing loss (HL) patients to clarify the prevalence and clinical characteristics of DFNA6/14/38 and Wolfram-like syndrome. Massively parallel DNA sequencing of 68 target genes was performed in 2,549 unrelated Japanese HL patients to identify genomic variations responsible for HL. The detailed clinical features in patients with WFS1 variants were collected from medical charts and analyzed. We successfully identified 13 WFS1 variants in 19 probands: eight of the 13 variants were previously reported mutations, including three mutations (p.A684V, p.K836N, and p.E864K) known to cause Wolfram-like syndrome, and five were novel mutations.
Study Type
Study TypeCase Set

Study Attribute

NBDC Numberhum0005
Registration date2017-12-02
Submitting organizationShinshu University School of Medicine
Principal InvestigatorShin-ichi Usami
Molecular Data TypeTarget resequencing
PlatformIon PGM, Ion Proton
VendorThermo Fisher Scientific
Comment
Molecular Data TypeTarget resequencing
PlatformHiSeq2000
VendorIllumina
Comment
Primary PhenotypeNonsyndromic hearing loss
Dataset
Accession Title Dataset type Data objects Policy
JGAD00000000134 WFS1 mutation screening in Japanese hearing loss patients. 24 JGAP00000000001